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. 2017 Jun 6;7:2887. doi: 10.1038/s41598-017-02792-z

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© The Author(s) 2017

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Structural models of TBL1XR1 N-terminal domain (NTD). (a) De novo mutation in TBL1XR1 [c.30 C > G (p.Phe10Leu)]. The chromatogram shows the mutation in the TBL1XR1 gene, which is observed in the proband (arrow) but not in the parents. (b) Overall structure of a homology model of tetrameric NTD of TBL1XR1. Monomers are depicted in distinct colors. (c) A monomer model of the control NTD is depicted as a ribbon model. Important residues are depicted as spheres. Gray, red and blue spheres indicate carbon, oxygen and nitrogen atoms, respectively, although all atoms of Phe10 are colored in cyan for clarity. (d) A monomer model of Phe10Leu NTD is depicted as a ribbon model. Leu10 is colored in cyan for clarity.